Product Details

SNP ID
rs145783503
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43061418 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGAGATCCTGGGGAGCACACGGC[G/T]GGTCAGCCAAGGGCTAGAGGCCCTA
Phenotype
MIM: 609577 MIM: 611822
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
CUL7 PubMed Links

Gene Details

Gene
CUL7
Gene Name
cullin 7
There are no transcripts associated with this gene.

Gene
KLC4
Gene Name
kinesin light chain 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289034.1 200 Missense Mutation CGG,CTG R28L NP_001275963.1
NM_001289035.1 200 Missense Mutation CGG,CTG R28L NP_001275964.1
NM_138343.3 200 Missense Mutation CGG,CTG R28L NP_612352.1
NM_201521.2 200 Missense Mutation CGG,CTG R28L NP_958929.1
NM_201522.2 200 Missense Mutation CGG,CTG R28L NP_958930.1
NM_201523.2 200 Missense Mutation CGG,CTG R46L NP_958931.1
XM_011514989.1 200 Missense Mutation CGG,CTG R46L XP_011513291.1
XM_017011457.1 200 Missense Mutation CGG,CTG R28L XP_016866946.1
Gene
MRPL2
Gene Name
mitochondrial ribosomal protein L2
There are no transcripts associated with this gene.

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